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Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations

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Abstract

Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30% of participants and associated with poorer cognitive and adaptive skills. History of severe abdominal pain predicted higher rates of SIB and SIB severity after controlling for age and adaptive behavior; individuals with a history of severe abdominal pain were eight times more likely to exhibit SIB than those with no history. Future research is needed to examine associations between genetic risk, pain, and SIB in this population.

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Data Availability

The data that support the findings of this study are available on request from the National Database for Autism Research (RRID: SCR_004434).

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Funding

This work was supported by the National Institutes of Mental Health [MH100047 to RAB; MH101221 to EEE] and the National Institute of Diabetes and Digestive and Kidney Disease [K23 DK118111 to SWT].

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Authors and Affiliations

  1. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA

    Evangeline C. Kurtz-Nelson, Kaitlyn Ahlers, Arianne S. Wallace, Raphael A. Bernier & Rachel K. Earl

  2. Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, Washington, USA

    See Wan Tham

  3. Seattle Children’s Research Institute, Seattle, Washington, USA

    See Wan Tham

  4. Seattle Children’s Autism Center, Seattle, Washington, USA

    Daniel Cho

  5. Department of Genome Sciences, University of Washington, Seattle, Washington, USA

    Evan E. Eichler

  6. Howard Hughes Medical Institute, Seattle, Washington, USA

    Evan E. Eichler

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  1. Evangeline C. Kurtz-Nelson
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  3. Kaitlyn Ahlers
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  4. Daniel Cho
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  7. Raphael A. Bernier
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  8. Rachel K. Earl
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Contributions

E.C.K.N. conceptualized the manuscript, performed data analyses, compiled genotype data, and drafted the majority of the manuscript. S.W.T. contributed to conceptualization, provided input on analyses, and drafted sections of the manuscript. K.A. and D.C. contributed to interpretation of data analyses and drafted sections of the manuscript. A.S.W. led acquisition of phenotype data. E.E.E., R.A.B., and R.K.E. acquired genotype and phenotype data, provided conceptual input, and provided critical revisions to the manuscript. E.C.K.N., S.W.T., K.A., D.C., A.S.W., E.E.E., R.A.B., and R.K.E. reviewed and approved the final manuscript.

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Correspondence to Rachel K. Earl.

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E.E.E. is on the Scientific Advisory Board of DNAnexus, Inc. The remaining authors have no conflicts of interest to report.

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Kurtz-Nelson, E.C., Tham, S.W., Ahlers, K. et al. Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations. J Autism Dev Disord 51, 3365–3373 (2021). https://doi.org/10.1007/s10803-020-04774-z

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